ABCD1 p.Pro484Arg
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PMID: 11748843
[PubMed]
Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
No.
Sentence
Comment
233
Another striking demonstration of the lack of genotype-phenotype correlation is the presence of five different phenotypes in six male patients of a family with a destabilizing missense mutation, P484R [Berger et al., 1994].
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ABCD1 p.Pro484Arg 11748843:233:195
status: NEW
PMID: 18834860
[PubMed]
Maier EM et al: "X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype."
No.
Sentence
Comment
28
To test this hypothesis, we performed sequencing and segregation analyses of ABCD2 within a large X-ALD family, affected by different X-ALD phenotypes but carrying the identical mutated ABCD1 allele (P484R) [16].
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ABCD1 p.Pro484Arg 18834860:28:200
status: NEW32 In all hemizygote brothers and the female carrier, the same (P484R) and no other mutation has been identified in the ABCD1 gene [16].
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ABCD1 p.Pro484Arg 18834860:32:61
status: NEW60 In all affected brothers and the female carrier, the same mutation (P484R) and no other mutation has been identified in the ABCD1 gene.
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ABCD1 p.Pro484Arg 18834860:60:68
status: NEW
PMID: 10551832
[PubMed]
Liu LX et al: "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."
No.
Sentence
Comment
47
ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25).
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ABCD1 p.Pro484Arg 10551832:47:35
status: NEW90 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c.
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ABCD1 p.Pro484Arg 10551832:90:62
status: NEW95 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine).
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ABCD1 p.Pro484Arg 10551832:95:69
status: NEW46 ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25).
X
ABCD1 p.Pro484Arg 10551832:46:35
status: NEW89 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c.
X
ABCD1 p.Pro484Arg 10551832:89:62
status: NEW94 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine).
X
ABCD1 p.Pro484Arg 10551832:94:69
status: NEW45 ALD point mutations (R389H, R401Q, P484R, and R591Q) were individually introduced into pGBT- and pLEX-hALDPc by site-directed mutagenesis using "overlap extension PCR" with Pfu polymerase (Stratagene) and appropriate primers (25).
X
ABCD1 p.Pro484Arg 10551832:45:35
status: NEW88 B and C, interactions of wild type and mutated (R389H, R401Q, P484R, and R591Q) ALDPc with mALDRPc and hPMP70c.
X
ABCD1 p.Pro484Arg 10551832:88:62
status: NEW93 A, HF7c yeast strains expressing wild type or mutated (R389H, R401Q, P484R, and R591Q) ALDPc fused to Gal4-BD were analyzed for histidine auxotrophy (left panel, medium with histidine; right panel, medium without histidine).
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ABCD1 p.Pro484Arg 10551832:93:69
status: NEW
PMID: 17542813
[PubMed]
Takahashi N et al: "Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations."
No.
Sentence
Comment
238
Actually, in their experiments the mutation of P484R and R591Q reduced the interaction of the COOH-terminal half of ALDP.
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ABCD1 p.Pro484Arg 17542813:238:47
status: NEW
PMID: 12530690
[PubMed]
Gartner J et al: "Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis."
No.
Sentence
Comment
85
A striking example of this is a family with a P484R mutation in the ALD gene.
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ABCD1 p.Pro484Arg 12530690:85:46
status: NEW
PMID: 22483867
[PubMed]
Kemp S et al: "X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects."
No.
Sentence
Comment
241
Another striking demonstration of the lack of a simple genotype-phenotype correlation is the presence of five different phenotypes in six male patients of a family with a destabilizing missense mutation, p.Pro484Arg [68].
X
ABCD1 p.Pro484Arg 22483867:241:206
status: NEW